Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033272
rs111033272
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894170
rs104894170
0.010 GeneticVariation BEFREE A new PAX2 missense mutation, R71T, may cause macular abnormalities in addition to anomalies of the optic disk and the kidney. 15652857

2005

dbSNP: rs61755783
rs61755783
0.010 GeneticVariation BEFREE The 65-year-old sister of this family had the Arg-142-Trp mutation with no macular abnormalities, but she might still develop central areolar choroidal dystrophy at an older age. 8644804

1996